Variant report

Variant	nsv613709
Chromosome Location	chr9:17899606-17918806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 343 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1977882	chr9:17899606-17899607	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373402434	chr9:17899622-17899623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147254551	chr9:17899699-17899700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540899992	chr9:17899726-17899727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547063368	chr9:17899766-17899767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140728987	chr9:17899770-17899771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544023908	chr9:17899780-17899781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28513701	chr9:17899806-17899807	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369456632	chr9:17899812-17899813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144484096	chr9:17899820-17899821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146537556	chr9:17899866-17899867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551572233	chr9:17899915-17899916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369307018	chr9:17899930-17899931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369108973	chr9:17899934-17899935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560063356	chr9:17899958-17899959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182491921	chr9:17900018-17900019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10963321	chr9:17900129-17900130	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs568154875	chr9:17900146-17900147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559676468	chr9:17900165-17900166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75455528	chr9:17900178-17900179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569316657	chr9:17900229-17900230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540800276	chr9:17900230-17900231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187129607	chr9:17900237-17900238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77549826	chr9:17900292-17900293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528405642	chr9:17900303-17900304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534504744	chr9:17900322-17900323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556094125	chr9:17900418-17900419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192776191	chr9:17900485-17900486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201172438	chr9:17900498-17900499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs397777543	chr9:17900503-17900504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199746480	chr9:17900504-17900505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144610368	chr9:17900538-17900539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73430575	chr9:17900553-17900554	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs79663580	chr9:17900554-17900555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116194025	chr9:17900579-17900580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140297575	chr9:17900586-17900587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373483902	chr9:17900593-17900594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115286552	chr9:17900603-17900604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527472103	chr9:17900631-17900632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148444330	chr9:17900635-17900636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10963323	chr9:17900646-17900647	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs142637011	chr9:17900707-17900708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550968653	chr9:17900721-17900722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185189491	chr9:17900724-17900725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75860987	chr9:17900746-17900747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551543007	chr9:17900772-17900773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567117696	chr9:17900776-17900777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534371380	chr9:17900780-17900781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10713244	chr9:17900790-17900791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs398087185	chr9:17900795-17900796	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17899600-17902800	Enhancers	Hela-S3	cervix
2	chr9:17900800-17901000	Enhancers	Fetal Brain Male	brain
3	chr9:17900800-17901000	Enhancers	Fetal Muscle Leg	muscle
4	chr9:17903600-17903800	Enhancers	Pancreas	Pancrea
5	chr9:17904000-17904200	Enhancers	Aorta	Aorta
6	chr9:17904200-17905200	Weak transcription	Aorta	Aorta
7	chr9:17904800-17905200	Bivalent Enhancer	Fetal Brain Male	brain
8	chr9:17905000-17905600	Bivalent Enhancer	Brain Germinal Matrix	brain
9	chr9:17905200-17905400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr9:17905200-17905400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr9:17905200-17905400	Enhancers	Aorta	Aorta
12	chr9:17905200-17905400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
13	chr9:17905200-17905400	Bivalent Enhancer	Fetal Brain Female	brain
14	chr9:17905200-17905400	Flanking Bivalent TSS/Enh	Fetal Heart	heart
15	chr9:17905200-17905400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
16	chr9:17905200-17905400	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr9:17905200-17905400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr9:17905200-17905400	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr9:17905200-17905400	Enhancers	Right Atrium	heart
20	chr9:17905200-17905600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
21	chr9:17905200-17905600	Bivalent Enhancer	Fetal Stomach	stomach
22	chr9:17905200-17905800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr9:17905200-17905800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:17905200-17905800	Bivalent Enhancer	Brain Hippocampus Middle	brain
25	chr9:17905200-17905800	Enhancers	Gastric	stomach
26	chr9:17905200-17905800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr9:17905200-17905800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
28	chr9:17905200-17906600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr9:17905200-17906800	Active TSS	Rectal Smooth Muscle	rectum
30	chr9:17905200-17907000	Enhancers	Pancreas	Pancrea
31	chr9:17905200-17907600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
32	chr9:17905200-17907800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr9:17905400-17905600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr9:17905400-17905600	Bivalent Enhancer	Fetal Lung	lung
35	chr9:17905400-17905600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
36	chr9:17905400-17905800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
37	chr9:17905400-17905800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
38	chr9:17905400-17905800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
39	chr9:17905400-17905800	Bivalent Enhancer	Fetal Heart	heart
40	chr9:17905400-17905800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
41	chr9:17905400-17906000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
42	chr9:17905400-17906400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
43	chr9:17905400-17906400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
44	chr9:17905400-17906600	Active TSS	Colonic Mucosa	Colon
45	chr9:17905400-17906800	Bivalent Enhancer	Fetal Brain Male	brain
46	chr9:17905400-17907400	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr9:17905400-17908200	Active TSS	Aorta	Aorta
48	chr9:17905400-17908400	Active TSS	Colon Smooth Muscle	Colon
49	chr9:17905600-17905800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:17905600-17905800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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